Clinical Genetics & Genomics Department
ERN-ITHACA: European Reference Network on congenital malformations and rare intellectual disability
European Reference Networks (ERNs) are virtual networks involving healthcare providers across Europe. They aim to improve the access to diagnosis and the provision of high-quality healthcare to all patients who have conditions requiring a particular concentration of resources or expertise, and could also be focal points for medical training and research, information dissemination and evaluation, especially for rare diseases.
The Clinical Genetics Clinic is an official full member of the ERN-ITHACA, as the designated expert centre in Cyprus for rare congenital malformations and rare intellectual disability disorders. The ERN-ITHACA brings together experts in rare congenital malformations and rare intellectual disability disorders from 15 European countries and therefore our membership significantly strengthens the cross-border networking activities of our Clinic with a group of colleagues from all over Europe. The ERN-ITHACA aims to provide an infrastructure for diagnosis, evidence-based management and collection of patient data. The network adds value to existing services, disseminates best practice guidelines to optimise patient care, facilitates training of healthcare providers and enhances research and development of future therapies.
Additional objectives of the ERN-ITHACA include the establishment of pan-European patient registries and research collaborations. Members of the ERN-ITHACA have the opportunity to contribute data from patients who remain without a diagnosis to the research project RD-SOLVE, which is a pan-European project that has recently been awarded funding from H2020. RD-SOLVE attempts to find answers for patients with undiagnosed conditions using advanced phenotyping and bioinformatics.
For more information on the ERN-ITHACA click here.